Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone

Glycogenosis VII (GSD VII) is a rare autosomal recessive glycogen storage disorder caused by mutations in the PFKM gene encoding the phosphofructokinase (PFK) enzyme. A classical form with exercise intolerance, contractures, and myoglobinuria, a severe multisystem infantile form, an hemolytic varian...

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Vydáno v:Front Neurol
Hlavní autoři: Filosto, Massimiliano, Cotti Piccinelli, Stefano, Pichiecchio, Anna, Musumeci, Olimpia, Galvagni, Anna, Caria, Filomena, Gallo Cassarino, Serena, Baldelli, Enrico, Vitale, Raimondo, Padovani, Alessandro, Toscano, Antonio
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2019
Témata:
Neurology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6374292/
https://ncbi.nlm.nih.gov/pubmed/30792690
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2019.00077
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